Canonical Allele Identifier: CA8328335

Gene: AIPL1

Linked Data

• dbSNP Id: rs770159814
• ExAC: 17:6328940 G / C
• gnomAD v2: 17-6328940-G-C
• gnomAD v4: 17-6425620-G-C
• COSMIC: COSM4929673
• MyVariant Identifiers: chr17:g.6328940G>C (hg19) ; chr17:g.6425620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425620G>C , CM000679.2:g.6425620G>C	GRCh38
NC_000017.10:g.6328940G>C , CM000679.1:g.6328940G>C	GRCh37
NC_000017.9:g.6269664G>C	NCBI36
NG_008474.1:g.14580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.995C>G MANE Select	ENSP00000370521.3:p.Thr332Arg
ENST00000250087.9:c.806C>G	ENSP00000250087.5:p.Thr269Arg
ENST00000381128.2:c.*867C>G	ENSP00000370520.2:n.*867C>G
ENST00000381129.7:c.995C>G	ENSP00000370521.3:p.Thr332Arg
ENST00000570466.5:c.929C>G	ENSP00000461287.1:p.Thr310Arg
ENST00000570584.5:c.251+8299C>G
ENST00000574506.5:c.959C>G	ENSP00000458456.1:p.Thr320Arg
ENST00000575265.5:c.*966C>G	ENSP00000459673.1:n.*966C>G
ENST00000576307.5:c.815C>G	ENSP00000459522.1:p.Thr272Arg
ENST00000576776.5:c.923C>G	ENSP00000460827.1:p.Thr308Arg
ENST00000621374.4:c.*13C>G	ENSP00000481337.1:n.*13C>G
NM_001033054.2:c.806C>G	NP_001028226.1:p.Thr269Arg
NM_001033055.2:c.815C>G	NP_001028227.1:p.Thr272Arg
NM_001285399.2:c.959C>G	NP_001272328.1:p.Thr320Arg
NM_001285400.2:c.929C>G	NP_001272329.1:p.Thr310Arg
NM_001285401.2:c.923C>G	NP_001272330.1:p.Thr308Arg
NM_001285402.1:c.878C>G	NP_001272331.1:p.Thr293Arg
NM_014336.4:c.995C>G	NP_055151.3:p.Thr332Arg
NM_001033054.3:c.806C>G	NP_001028226.1:p.Thr269Arg
NM_001033055.3:c.815C>G	NP_001028227.1:p.Thr272Arg
NM_001285399.3:c.959C>G	NP_001272328.1:p.Thr320Arg
NM_001285400.3:c.929C>G	NP_001272329.1:p.Thr310Arg
NM_001285401.3:c.923C>G	NP_001272330.1:p.Thr308Arg
NM_001285402.2:c.878C>G	NP_001272331.1:p.Thr293Arg
NM_001285403.3:c.*966C>G	NP_001272332.1:n.*966C>G
NM_014336.5:c.995C>G MANE Select	NP_055151.3:p.Thr332Arg
NM_001285403.4:c.*966C>G	NP_001272332.1:n.*966C>G